AME
MCID: APP015
MIFTS: 51

Apparent Mineralocorticoid Excess (AME) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Apparent Mineralocorticoid Excess

Aliases & Descriptions for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 54 50 56 66 13 69
Cortisol 11-Beta-Ketoreductase Deficiency 50 24 66 69
Apparent Mineralocorticoid Excess Syndrome 12 24 14
Ame 50 24 66
Syndrome of Apparent Mineralocorticoid Excess 12 29
Mineralocorticoid Excess Syndrome, Apparent 42 69
Ame1 24 66
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 56
Ulick Syndrome 56
Ame 1 50

Characteristics:

Orphanet epidemiological data:

56
apparent mineralocorticoid excess
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

HPO:

32
apparent mineralocorticoid excess:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 218030
Disease Ontology 12 DOID:4367
MeSH 42 D043204
NCIt 47 C123231
SNOMED-CT 64 237770005
Orphanet 56 ORPHA320
UMLS via Orphanet 70 C0342488 C2936861
ICD10 via Orphanet 34 E26.1
MESH via Orphanet 43 C537422 D043204
MedGen 40 C2936861
UMLS 69 C0342488

Summaries for Apparent Mineralocorticoid Excess

OMIM : 54 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low... (218030) more...

MalaCards based summary : Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to critical limb ischemia and ablepharon-macrostomia syndrome, and has symptoms including hypertension, failure to thrive and short stature. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2), and among its related pathways/superpathways are Metabolism of steroid hormones and Aldosterone-regulated sodium reabsorption. The drugs Anti-Inflammatory Agents and glycyrrhetinic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are Decreased shRNA abundance and Increased transferrin (TF) endocytosis

UniProtKB/Swiss-Prot : 66 Apparent mineralocorticoid excess: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

Wikipedia : 71 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

Related Diseases for Apparent Mineralocorticoid Excess

Diseases related to Apparent Mineralocorticoid Excess via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 174)
id Related Disease Score Top Affiliating Genes
1 critical limb ischemia 29.3 NR3C2 PIK3C2A REN
2 ablepharon-macrostomia syndrome 11.5
3 acute mountain sickness 11.1
4 amenorrhea 11.1
5 hemosiderosis 10.8
6 dysplastic nevus syndrome 10.8
7 smith-mccort dysplasia 2 10.2 NR3C2 REN
8 hyperaldosteronism, familial, type iii 10.2 NR3C2 REN
9 dystonia 25 10.2 NR3C2 REN
10 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2 NR3C1 NR3C2
11 prostate neuroendocrine neoplasm 10.2 HSD11B2 NR3C2 REN
12 familial nasal acilia 10.2 HSD11B2 NR3C2 REN
13 distal monosomy 14q 10.1 POMC REN
14 hypogonadism mitral valve prolapse mental retardation 10.1 POMC REN
15 microphthalmia, isolated, with coloboma 7 10.1 NR3C2 PIK3C2A REN
16 endometrial mixed adenocarcinoma 10.1 POMC REN
17 retinitis pigmentosa 10.1 ATP6V0A4 NR3C2 REN
18 lymphoproliferative syndrome 2 10.1 NR3C2 REN
19 nonparalytic poliomyelitis 10.1 NR3C1 POMC
20 bipolar disorder 10.1 CLCNKB REN
21 malignant otitis externa 10.1 POMC REN
22 clear cell acanthoma 10.0 HSD11B2 POMC REN
23 familial multiple trichodiscomas 10.0 POMC REN
24 transsexualism 10.0 REN XK
25 parietal lobe neoplasm 10.0 ATP6V0A4 POMC
26 panuveitis 10.0 NR3C2 POMC REN
27 bronchiectasis with or without elevated sweat chloride 3 10.0 HSD11B2 NR3C1 NR3C2 REN
28 immune system organ benign neoplasm 10.0 NR3C2 POMC REN
29 clear cell adenocarcinoma 10.0 NR3C2 POMC REN
30 arteriovenous malformation 10.0 PIK3C2A XK
31 splenic tuberculosis 10.0 HSD11B1 HSD11B2 NR3C1 NR3C2
32 bartter syndrome, type 3 10.0 ATP6V0A4 CLCNKB REN
33 traumatic glaucoma 10.0 HSD11B2 POMC
34 childhood optic tract astrocytoma 10.0 HSD11B1 POMC REN
35 epithelial predominant pulmonary blastoma 10.0 HSD17B6 POMC
36 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.0 NR3C1 POMC
37 liddle syndrome 10.0
38 hypothyroidism 10.0
39 raynaud disease 9.9 ATP6V0A4 XK
40 calcinosis 9.9 ATP6V0A4 POMC REN
41 anisometropia 9.9 HSD11B1 HSD11B2 NR3C1 POMC
42 astroblastoma 9.9 POMC REN
43 prostatitis 9.8
44 glossopharyngeal nerve neoplasm 9.8 POMC REN XK
45 leukemia 9.8
46 congenital adrenal hyperplasia 9.8
47 nephrocalcinosis 9.8
48 cystic fibrosis 9.8
49 pseudohypoaldosteronism 9.8
50 hypoaldosteronism, congenital, due to cmo i deficiency 9.8 HSD11B2 NR3C1 NR3C2 POMC REN

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess:



Diseases related to Apparent Mineralocorticoid Excess

Symptoms & Phenotypes for Apparent Mineralocorticoid Excess

Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

Human phenotypes related to Apparent Mineralocorticoid Excess:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 failure to thrive 32 HP:0001508
3 short stature 32 HP:0004322
4 hypokalemia 32 HP:0002900
5 decreased circulating aldosterone level 32 HP:0004319
6 small for gestational age 32 HP:0001518
7 metabolic alkalosis 32 HP:0200114
8 decreased circulating renin level 32 HP:0003351
9 hypertensive retinopathy 32 HP:0001095

GenomeRNAi Phenotypes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.26 CLCNKB HSD11B2 HSD17B6 PIK3C2A
2 Increased transferrin (TF) endocytosis GR00363-A 9.23 HSD17B6 NR3C1 NR3C2 POMC REN XK

MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 ATP6V0A4 HSD11B1 HSD11B2 NR3C1 NR3C2 PIK3C2A
2 homeostasis/metabolism MP:0005376 9.96 ATP6V0A4 CLCNKB HSD11B1 HSD11B2 NR3C1 NR3C2
3 cardiovascular system MP:0005385 9.91 PIK3C2A POMC REN HSD11B1 HSD11B2 NR3C1
4 hematopoietic system MP:0005397 9.87 HSD11B1 NR3C1 NR3C2 PIK3C2A POMC REN
5 muscle MP:0005369 9.63 HSD11B1 HSD11B2 NR3C1 NR3C2 REN XK
6 nervous system MP:0003631 9.5 HSD11B1 NR3C1 NR3C2 PIK3C2A POMC REN
7 renal/urinary system MP:0005367 9.23 REN ATP6V0A4 CLCNKB HSD11B2 NR3C1 NR3C2

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

Drugs for Apparent Mineralocorticoid Excess (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Inflammatory Agents Phase 2, Phase 3
2
glycyrrhetinic acid Phase 2, Phase 3 471-53-4 18526330
3 Hormone Antagonists Phase 2, Phase 3
4 Hormones Phase 2, Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
6 Mineralocorticoids Phase 2, Phase 3
7 Licorice Nutraceutical Phase 2, Phase 3
8
Cortisone acetate Approved 1950-04-4, 50-04-4 5745
9
Hydrocortisone Approved, Vet_approved 50-23-7 5754 657311
10
Butyric Acid Experimental 107-92-6 264
11 Cortisol succinate
12
Cortisone 53-06-5 222786
13 Hydrocortisone 17-butyrate 21-propionate
14 Hydrocortisone acetate
15 Hydrocortisone-17-butyrate

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3
2 Natural History of Apparent Mineralocorticoid Excess Syndrome Completed NCT00474942
3 An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio Not yet recruiting NCT02939144

Search NIH Clinical Center for Apparent Mineralocorticoid Excess

Cochrane evidence based reviews: mineralocorticoid excess syndrome, apparent

Genetic Tests for Apparent Mineralocorticoid Excess

Genetic tests related to Apparent Mineralocorticoid Excess:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess 29
2 Apparent Mineralocorticoid Excess Syndrome 24 HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess

MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

39
Kidney

Publications for Apparent Mineralocorticoid Excess

Articles related to Apparent Mineralocorticoid Excess:

(show top 50) (show all 61)
id Title Authors Year
1
Liquorice-induced apparent mineralocorticoid excess presenting in the emergency department. ( 28148579 )
2017
2
Apparent mineralocorticoid excess caused by a novel mutation in 11I^-hydroxysteroid dehydrogenase type 2 gene. ( 28121843 )
2017
3
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. ( 27526338 )
2016
4
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. ( 26892095 )
2016
5
Apparent mineralocorticoid excess. ( 26956190 )
2016
6
Apparent Mineralocorticoid Excess Syndrome: A Case of Resistant Hypertension From Licorice Tea Consumption. ( 27251761 )
2016
7
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. ( 25593612 )
2015
8
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. ( 26126204 )
2015
9
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. ( 23945123 )
2014
10
A case of iatrogenic Cushing syndrome and apparent mineralocorticoid excess presenting with accelerated hypertension and proteinuria. ( 25201428 )
2014
11
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-I^ Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. ( 24936560 )
2014
12
Apparent mineralocorticoid excess (AME) syndrome. ( 23665601 )
2013
13
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. ( 23329753 )
2012
14
Apparent mineralocorticoid excess - update. ( 21691952 )
2011
15
Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. ( 21536617 )
2011
16
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. ( 21042587 )
2010
17
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. ( 19169481 )
2008
18
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. ( 18032795 )
2008
19
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17516565 )
2007
20
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17198920 )
2007
21
[From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. ( 17447595 )
2007
22
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. ( 17314322 )
2007
23
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. ( 17035606 )
2006
24
Distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 14625721 )
2004
25
Apparent mineralocorticoid excess syndrome: an overview. ( 15761540 )
2004
26
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. ( 15134813 )
2004
27
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. ( 15126515 )
2004
28
The distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 12759812 )
2003
29
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. ( 12788846 )
2003
30
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. ( 12860834 )
2003
31
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. ( 11227727 )
2001
32
Apparent mineralocorticoid excess. ( 11306334 )
2001
33
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. ( 11095013 )
2000
34
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. ( 11154148 )
2000
35
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? ( 11005270 )
2000
36
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. ( 11202632 )
2000
37
[Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. ( 10883518 )
2000
38
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. ( 10489390 )
1999
39
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. ( 10523339 )
1999
40
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. ( 10536001 )
1999
41
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. ( 9661590 )
1998
42
Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. ( 9683587 )
1998
43
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. ( 9851783 )
1998
44
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. ( 9398712 )
1997
45
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. ( 9431844 )
1997
46
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. ( 9034789 )
1997
47
[A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. ( 9404418 )
1997
48
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. ( 8538347 )
1996
49
Apparent mineralocorticoid excess: type I and type II. ( 8732999 )
1996
50
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. ( 8793850 )
1996

Variations for Apparent Mineralocorticoid Excess

UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess:

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 HSD11B2 p.Arg208Cys VAR_006958 rs121917780
2 HSD11B2 p.Arg213Cys VAR_006959 rs28934591
3 HSD11B2 p.Leu179Arg VAR_015635
4 HSD11B2 p.Ser180Phe VAR_015636
5 HSD11B2 p.Arg186Cys VAR_015637 rs768507002
6 HSD11B2 p.Arg208His VAR_015638 rs28934592
7 HSD11B2 p.Ala237Val VAR_015640
8 HSD11B2 p.Asp244Asn VAR_015641
9 HSD11B2 p.Leu250Arg VAR_015642
10 HSD11B2 p.Arg279Cys VAR_015644 rs28934594
11 HSD11B2 p.Ala328Val VAR_015645
12 HSD11B2 p.Tyr338His VAR_015646 rs387907117
13 HSD11B2 p.Asp223Asn VAR_066514 rs121917833
14 HSD11B2 p.Arg337Cys VAR_066515 rs121917781

ClinVar genetic disease variations for Apparent Mineralocorticoid Excess:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 HSD11B2 NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs121917780 GRCh37 Chromosome 16, 67470003: 67470003
2 HSD11B2 NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys) single nucleotide variant Pathogenic rs28934591 GRCh37 Chromosome 16, 67470018: 67470018
3 HSD11B2 NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys) single nucleotide variant Pathogenic rs121917781 GRCh37 Chromosome 16, 67470697: 67470697
4 HSD11B2 NM_000196.3(HSD11B2): c.623G> A (p.Arg208His) single nucleotide variant Pathogenic rs28934592 GRCh37 Chromosome 16, 67470004: 67470004
5 HSD11B2 NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) deletion Pathogenic rs397509434 GRCh37 Chromosome 16, 67470698: 67470700
6 HSD11B2 NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys) single nucleotide variant Pathogenic rs28934594 GRCh37 Chromosome 16, 67470523: 67470523
7 HSD11B2 NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn) single nucleotide variant Pathogenic rs121917833 GRCh37 Chromosome 16, 67470154: 67470154
8 HSD11B2 NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del) deletion Pathogenic rs794726670 GRCh37 Chromosome 16, 67470583: 67470585
9 HSD11B2 NM_000196.3(HSD11B2): c.664+14C> T single nucleotide variant Pathogenic rs376023420 GRCh37 Chromosome 16, 67470059: 67470059
10 HSD11B2 NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His) single nucleotide variant Pathogenic rs387907117 GRCh37 Chromosome 16, 67470700: 67470700
11 HSD11B2 NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs) deletion Pathogenic rs794726684 GRCh37 Chromosome 16, 67465228: 67465229

Expression for Apparent Mineralocorticoid Excess

Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess.

Pathways for Apparent Mineralocorticoid Excess

GO Terms for Apparent Mineralocorticoid Excess

Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 8.96 ATP6V0A4 CLCNKB
2 glucocorticoid biosynthetic process GO:0006704 8.62 HSD11B1 HSD11B2

Molecular functions related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity GO:0003845 8.96 HSD11B1 HSD11B2
2 steroid binding GO:0005496 8.8 HSD11B2 NR3C1 NR3C2

Sources for Apparent Mineralocorticoid Excess

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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